Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.

doi:10.1016/j.ajhg.2013.09.015

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Article

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.

American journal of human genetics - 7 Nov 2013

Kubo Akiharu, Shiohama Aiko, Sasaki Takashi, Nakabayashi Kazuhiko, Kawasaki Hiroshi, Atsugi Toru, Sato Showbu, Shimizu Atsushi, Mikami Shuji, Tanizaki Hideaki, Uchiyama Masaki, Maeda Tatsuo, Ito Taisuke, Sakabe Jun-ichi, Heike Toshio, Okuyama Torayuki, Kosaki Rika, Kosaki Kenjiro, Kudoh Jun, Hata Kenichiro, Umezawa Akihiro, Tokura Yoshiki, Ishiko Akira, Niizeki Hironori, Kabashima Kenji, Mitsuhashi Yoshihiko, Amagai Masayuki

Abstract excerpt

"Nagashima-type" palmoplantar keratosis (NPPK) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by well-demarcated diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis in NPPK is mild and nonprogressive, differentiating NPPK clinically from Mal de Meleda. We performed whole-exome and/or Sanger...

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PMID: 24207119
DOI: 10.1016/j.ajhg.2013.09.015
PMCID: PMC3824127

Genes

SERPINB7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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